1/175. Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.Mutations in the type I collagen genes have been identified as the cause of all four types of osteogenesis imperfecta (OI). We now report a mutation that extends the phenotype associated with structural abnormalities in type I collagen. Two siblings presented with a history of back pain and were diagnosed with juvenile osteoporosis, based on clinical and radiological examination. Radiographs showed decreased lumbar bone density and multiple compression fractures throughout the thoracic and lumbar spines of both patients. One child has moderate short stature and mild neurosensory hearing loss. However, neither child has incurred the long bone fractures characteristic of OI. Protein studies demonstrated electrophoretically abnormal type I collagen in samples from both children. Enzymatic cleavage of rna:rna hybrids identified a mismatch in type I collagen alpha2 (COL1A2) mRNA. dna sequencing of COL1A2 cDNA subclones defined the mismatch as a single-base mutation (1715G --> A) in both children. This mutation predicts the substitution of arginine for glycine at position 436 (G436R) in the helical domain of the alpha2(I) chain. Analysis of genomic dna identified the mutation in the asymptomatic father, who is presumably a germ-line mosaic carrier. The presence of the same heterozygous mutation in two siblings strongly suggests that the probands display the full phenotype. Taken together, the clinical, biochemical, and molecular findings of this study extend the phenotype associated with type I collagen mutations to cases with only spine manifestations and variable short stature into adolescence.- - - - - - - - - - ranking = 1keywords = back pain, pain, back (Clic here for more details about this article) |
2/175. pregnancy-associated osteoporosis with elevated levels of circulating parathyroid hormone-related protein: a report of two cases.Two lactating women who had complained of back pain developed spontaneous vertebral fractures with low bone mineral density (BMD) several months postpartum. The back pain and biochemical abnormalities presented as hypercalcemia and elevated plasma levels of the parathyroid hormone-related protein (PTH-rP) that returned to normal indices with increasing BMD after weaning. The increased circulating PTH-rP might contribute to the pregnancy-associated osteoporosis in women who probably are already osteopenic.- - - - - - - - - - ranking = 2keywords = back pain, pain, back (Clic here for more details about this article) |
3/175. Partial transient osteoporosis of the hand.OBJECTIVE: To describe the radiographic and scintigraphic findings of partial transient osteoporosis (PTO) of the hand. To discuss the relationship of PTO and other localized demineralizing diseases. DESIGN AND patients: Three patients with PTO that affected two or three digits of the hand are reported. Two patients were middle-aged women and the third was a young man. All presented with a history of trauma to the hand. All patients experienced localized burning pain, swelling and vasomotor changes including redness of the skin, hyperhidrosis and signs of vasomotor instability of the involved fingers. Plain radiography and bone scanning were used in the diagnosis and follow-up of these cases. RESULTS: All patients had a radial distribution of the osteoporosis that involved adjacent rays. In all patients two rays were involved. The radiographic changes manifested as minimal patchy osteoporosis involving the cortical, cancellous, subarticular and subperiosteal bone with no articular involvement. The increased uptake on scintigraphy coincided with the radial distribution of the osteoporosis. All patients improved on physical therapy and were symptom-free approximately 6 months after the initial injury. These patients were followed up for more than 2 years. CONCLUSION: PTO of the hand is an uncommon disease with typical clinical and radiographic findings. Bone scintigraphy confirms the partial involvement of the hand.- - - - - - - - - - ranking = 0.10024342087042keywords = pain (Clic here for more details about this article) |
4/175. Estrogen supplementation for bone dematuration in young epileptic man treated with anticonvulsant therapy; a case report.We encountered a young man treated with anticonvulsant therapy who had greatly reduced bone mineral density. An 18-year-old man was admitted to our hospital for shoulder pain and further evaluation of decreased bone mineral density. He had been treated with anticonvulsants, including phenytoin, phenobarbital, valproic acid and zonisamide for seizures. Although testosterone was found within the normal range for adult men, the serum estrogen concentration was below the detection limit (< 10 pg/ml) and his wrist epiphyses were not yet closed. After 10 months of treatment with the conjugated estrogen, both his height and weight showed improvement, while his bone mineral density and bone age were increased. These findings suggested that estrogen therapy had a significant effect on his skeletal growth and bone maturation in man. This is the first report showing the beneficial effect of estrogen supplementation in an epileptic man receiving treatment with anticonvulsants.- - - - - - - - - - ranking = 0.10024342087042keywords = pain (Clic here for more details about this article) |
5/175. Post-gastrectomy bone disease undiagnosed for forty years.Polya partial gastrectomy was performed for peptic ulcer in a previously healthy woman aged 28 years. She complained afterwards of a variety of non-specific symptoms including weakness, tiredness, debility, slowness of walking, poor appetite and constipation. Within ten years her back became bent. She was treated for intercurrent hypertension and epilepsy. Bone fractures on low-impact trauma occurred in her fifties. At 57 years, she was unable to care for herself and had to be admitted to a nursing home. She could still walk slowly with the aid of a stick. For three months at the age of 65 years, she was unable to rise from her chair. Investigations disclosed severe post-gastrectomy bone disease. At no time had she complained of bone pains.- - - - - - - - - - ranking = 0.15076382770996keywords = pain, back (Clic here for more details about this article) |
6/175. Mitochondrial dna deletion associated oxidative stress and severe male osteoporosis.We have screened the mitochondrial genome of 15 men with symptomatic vertebral fractures (median age 62 years, range 27-72 years) and 17 male control subjects (median age 61 years, range 40-73 years) for the presence of mitochondrial dna (mtDNA) deletions in peripheral monocyte dna. polymerase chain reaction analysis provided evidence of a common age-related (4.9 kb) mtDNA deletion situated between nucleotides 8470 and 13.460 of the genomic sequence in 5 of the 17 controls (29%) and 9 of the 15 patients (60%) investigated. Southern blotting and polymerase chain reaction revealed a novel 3.7 kb deletion in 2 patients. One of the affected patients, a 27-year-old man with severe osteoporosis (lumbar spine bone mineral density (BMD) 0.381 g/cm(2); Z-score -6.45) was found to harbor deletion in almost 50% of the mitochondria. The patient had a blood lactic acid level (4.6 nM) that was over 3 times the upper reference range (0-1.3 mM), thus confirming the presence of systemic oxidative stress. Further analysis by modified primer shift polymerase chain reaction showed the 5' breakpoint to be between the nucleotides 10.63 kb and 10.80 kb of the mtDNA. The second patient harboring the 3.7 kb deletion was older (62 years) with less severe osteoporosis (lumbar spine BMD 0.727/cm(2); Z-score -2.58) and the proportion of affected mitochondria was lower (25%). The significance of these findings is discussed and the possible relation between oxidative stress and accelerated bone loss is examined.- - - - - - - - - - ranking = 0.0001544122529723keywords = upper (Clic here for more details about this article) |
7/175. Vertebral rarefaction in acute lymphoblastic leukaemia.A 16-year-old boy is reported in whom back pain, due to localised osteoporosis and partial collapse of a lumbar vertebra, drew attention to unsuspected acute lymphoblastic leukaemia. The patient responded promptly to induction therapy, his symptoms disappeared, and he is presently in the maintenance programme. The skeletal lesion continues to heal slowly. attention is drawn to this unusual presentation of acute lymphoblastic leukaemia, and the importance of bone-marrow examination in the study of unexplained cases of osteoporosis is emphasised.- - - - - - - - - - ranking = 1keywords = back pain, pain, back (Clic here for more details about this article) |
8/175. Transient osteoporosis of the hip: presentation of (a)typical cases and a review of the literature.Transient osteoporosis of the hip (TOH) is a rare disorder affecting primarily middle-aged men and women during the last trimester of pregnancy. The disease is characterized by pain in the involved joint with temporary osteopenia apparent on radiology without joint space narrowing or destruction, in the absence of other recognizable causes of synovitis or osteoporosis. Within a few months the pain as well as radiological abnormalities disappear spontaneously with complete resolution. In this paper the literature is reviewed, with particular focus on the topic of the role of magnetic resonance imaging (MRI) in the diagnostic procedure. Two patients with TOH, a father and daughter, are described. Such a familial appearance has not been reported before. Based on HLA-typing, the existence of an HLA-associated genetic predisposition nevertheless seems unlikely.- - - - - - - - - - ranking = 0.20048684174084keywords = pain (Clic here for more details about this article) |
9/175. A case of postpregnancy osteoporosis.A puerperant woman, who was previously healthy and had no disease known to affect bone metabolism, experienced lower back pain and lumbar vertebral fractures during lactation. Both bone formation markers and resorption markers were markedly elevated. Bone mineral density of the lumbar spine as measured by dual energy X-ray absorptiometry was extremely low. She stopped lactation through the use of bromocriptine because of the large volume of milk secretion. After treatment with calcitonin injections and the use of a corset, her back pain gradually disappeared. This case appears to be postpregnancy osteoporosis.- - - - - - - - - - ranking = 2keywords = back pain, pain, back (Clic here for more details about this article) |
10/175. Transient osteoporosis of the talus.Transient osteoporosis is a clinical syndrome of unknown etiology characterized by the acute onset of pain gradually worsening over several weeks to months. Radiographic changes occur, but laboratory studies are generally unremarkable. Transient osteoporosis of the talus appears to have a similar clinical appearance, radiographic findings, and successful response to conservative management as transient osteoporosis found elsewhere in the body and can be treated similarly. awareness of this syndrome is important to avoid confusing it with a variety of other disorders of the talus that may have similar clinical presentations.- - - - - - - - - - ranking = 0.10024342087042keywords = pain (Clic here for more details about this article) |
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